Literature DB >> 23612248

Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report.

Marta Macedoni-Lukšič1, Danijela Krgović, Boris Zagradišnik, Nadja Kokalj-Vokač.   

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Year:  2013        PMID： 23612248     DOI： 10.1016/j.gene.2013.03.141

Source DB:  PubMed          Journal:  Gene        ISSN： 0378-1119            Impact factor:   3.688


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  8 in total

1.  Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).

Authors:  Gillian Reierson; Jon Bernstein; Wendy Froehlich-Santino; Alexander Urban; Carolin Purmann; Sean Berquist; Josh Jordan; Ruth O'Hara; Joachim Hallmayer
Journal:  J Psychiatr Res       Date:  2017-03-16       Impact factor: 4.791

2.  Descriptive Analysis of Adaptive Behavior in Phelan-McDermid Syndrome and Autism Spectrum Disorder.

Authors:  Sergio Serrada-Tejeda; Rosa M Martínez-Piédrola; Nuria Máximo-Bocanegra; Patricia Sánchez-Herrera-Baeza; Marta Pérez-de-Heredia-Torres
Journal:  Front Neurosci       Date:  2022-07-04       Impact factor: 5.152

3.  Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.

Authors:  Andrew R Mitz; Travis J Philyaw; Luigi Boccuto; Aleksandr Shcheglovitov; Sara M Sarasua; Walter E Kaufmann; Audrey Thurm
Journal:  Eur J Hum Genet       Date:  2018-01-22       Impact factor: 4.246

4.  Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment.

Authors:  Catherine A Ziats; Luke P Grosvenor; Sara M Sarasua; Audrey E Thurm; Susan E Swedo; Ahmed Mahfouz; Owen M Rennert; Mark N Ziats
Journal:  PLoS One       Date:  2019-03-15       Impact factor: 3.240

5.  Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.

Authors:  Alexander Kolevzon; Elsa Delaby; Elizabeth Berry-Kravis; Joseph D Buxbaum; Catalina Betancur
Journal:  Mol Autism       Date:  2019-12-24       Impact factor: 7.509

6.  DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Authors:  L C Schenkel; E Aref-Eshghi; K Rooney; J Kerkhof; M A Levy; H McConkey; R C Rogers; K Phelan; S M Sarasua; L Jain; R Pauly; L Boccuto; B DuPont; G Cappuccio; N Brunetti-Pierri; C E Schwartz; B Sadikovic
Journal:  Clin Epigenetics       Date:  2021-01-06       Impact factor: 6.551

7.  Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.

Authors:  Cartik Kothari; Maxime Wack; Claire Hassen-Khodja; Sean Finan; Guergana Savova; Megan O'Boyle; Geraldine Bliss; Andria Cornell; Elizabeth J Horn; Rebecca Davis; Jacquelyn Jacobs; Isaac Kohane; Paul Avillach
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2017-09-01       Impact factor: 3.568

8.  Bringing everyone to the table - findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference.

Authors:  Kimberly Goodspeed; Geraldine Bliss; Diane Linnehan
Journal:  Orphanet J Rare Dis       Date:  2020-06-16       Impact factor: 4.123
  8 in total

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